TGFBR2 and Shprintzen-Goldberg syndrome: Moreover, Shprintzen-Goldberg syndrome (SGS), a disorder involving craniosynostosis, intellectual disability, and skeletal abnormalities, has been associated with mutations in TGFBR2, though it presents with distinct craniofacial and neurological features compared to LDS (Van Steensel et al., 2008).